Variant report

Variant	rs536148987
Chromosome Location	chr1:246730964-246730965
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:246729094-246731210	GM12891	blood:	n/a	n/a
2	MAX	chr1:246729023-246730981	ECC-1	luminal epithelium:	n/a	chr1:246730385-246730392
3	TEAD4	chr1:246729003-246731470	K562	blood:	n/a	chr1:246730585-246730594
4	RFX5	chr1:246729126-246731037	Hela-S3	cervix:	n/a	chr1:246730776-246730785
5	MXI1	chr1:246728044-246731539	SK-N-SH	brain:	n/a	n/a
6	TBP	chr1:246729230-246731013	GM12878	blood:	n/a	n/a
7	BRCA1	chr1:246729148-246731037	Hela-S3	cervix:	n/a	chr1:246730282-246730289
8	POLR2A	chr1:246729121-246731099	PBDE	blood:	n/a	n/a
9	POLR2A	chr1:246729073-246731155	IMR90	lung:	n/a	n/a
10	POLR2A	chr1:246729156-246731160	GM12878	blood:	n/a	n/a
11	UBTF	chr1:246729077-246731026	K562	blood:	n/a	n/a
12	CEBPB	chr1:246729031-246731079	Hela-S3	cervix:	n/a	chr1:246730776-246730784 chr1:246730670-246730681
13	FOS	chr1:246730699-246731043	MCF10A-Er-Src	breast:	n/a	n/a
14	EP300	chr1:246729400-246730991	GM12878	blood:	n/a	chr1:246729606-246729620
15	MXI1	chr1:246729151-246731015	Hela-S3	cervix:	n/a	n/a
16	NFYB	chr1:246730578-246730983	Hela-S3	cervix:	n/a	chr1:246730773-246730788 chr1:246730773-246730786 chr1:246730773-246730787 chr1:246730773-246730788 chr1:246730770-246730785
17	MAX	chr1:246728823-246731022	Hela-S3	cervix:	n/a	chr1:246730385-246730392
18	RFX5	chr1:246730863-246731248	K562	blood:	n/a	n/a
19	CEBPB	chr1:246730495-246731161	K562	blood:	n/a	chr1:246730776-246730784 chr1:246730670-246730681
20	POLR2A	chr1:246728281-246731145	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr1:246729106-246731030	MCF10A-Er-Src	breast:	n/a	chr1:246730385-246730392
22	MAX	chr1:246728856-246731095	HCT-116	colon:	n/a	chr1:246730385-246730392
23	ARID3A	chr1:246730285-246730981	K562	blood:	n/a	n/a
24	TEAD4	chr1:246728918-246731027	K562	blood:	n/a	chr1:246730585-246730594
25	MXI1	chr1:246729027-246731085	GM12878	blood:	n/a	n/a
26	IRF1	chr1:246729286-246731315	K562	blood:	n/a	chr1:246730775-246730784
27	STAT1	chr1:246730949-246730966	GM12878	blood:	n/a	n/a
28	FOS	chr1:246730457-246730990	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr1:246730304-246731092	MCF10A-Er-Src	breast:	n/a	n/a
30	MXI1	chr1:246728283-246731163	IMR90	lung:	n/a	n/a
31	POLR2A	chr1:246729117-246731064	GM18505	blood:	n/a	n/a
32	POLR2A	chr1:246730497-246731237	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr1:246730517-246731439	SK-N-SH	brain:	n/a	n/a
34	CEBPB	chr1:246730501-246731176	IMR90	lung:	n/a	chr1:246730776-246730784 chr1:246730670-246730681
35	E2F4	chr1:246730912-246731178	MCF10A-Er-Src	breast:	n/a	n/a
36	CEBPB	chr1:246730501-246731174	K562	blood:	n/a	chr1:246730776-246730784 chr1:246730670-246730681
37	MAFK	chr1:246730648-246730969	IMR90	lung:	n/a	n/a
38	MAX	chr1:246730658-246731001	SK-N-SH	brain:	n/a	n/a
39	TBP	chr1:246729119-246731246	K562	blood:	n/a	n/a
40	NFYB	chr1:246730607-246730978	GM12878	blood:	n/a	chr1:246730773-246730788 chr1:246730773-246730786 chr1:246730773-246730787 chr1:246730773-246730788 chr1:246730770-246730785
41	MXI1	chr1:246729084-246730974	K562	blood:	n/a	n/a
42	CEBPB	chr1:246730499-246731075	A549	lung:	n/a	chr1:246730776-246730784 chr1:246730670-246730681
43	MAZ	chr1:246729116-246731055	K562	blood:	n/a	chr1:246730385-246730392
44	MYC	chr1:246728306-246731338	K562	blood:	n/a	chr1:246730385-246730392
45	POLR2A	chr1:246730549-246731005	ProgFib	skin:	n/a	n/a
46	HCFC1	chr1:246728272-246731345	Hela-S3	cervix:	n/a	n/a
47	ZNF384	chr1:246729398-246731510	K562	blood:	n/a	n/a
48	GATA3	chr1:246730527-246731515	SK-N-SH	brain:	n/a	n/a
49	MYC	chr1:246728561-246731254	K562	blood:	n/a	chr1:246730385-246730392
50	TBL1XR1	chr1:246728934-246731346	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:246730131..246732589-chr1:246747162..246749763,2	MCF-7	breast:
2	chr1:246729874..246731842-chr1:246862649..246864902,2	K562	blood:
3	chr1:246729967..246732161-chr22:19156837..19159425,2	K562	blood:

Variant related genes	Relation type
TFB2M	TF binding region
ENSG00000260924	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004119	chr1:245957145-246813150	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv535389	chr1:245957145-246813150	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1000654	chr1:245966390-246778182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv535392	chr1:245966390-246778182	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv868852	chr1:245969229-246811220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv430402	chr1:246124959-246787448	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv497890	chr1:246143172-246778453	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1005573	chr1:246378676-246740427	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv535405	chr1:246378676-246740427	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2757779	chr1:246407146-246740944	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv2759012	chr1:246407146-246740944	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv428346	chr1:246407146-246740944	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2762191	chr1:246546436-246815064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv1010453	chr1:246645797-246815052	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv998579	chr1:246666041-246817877	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
24	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
25	nsv522963	chr1:246696596-246747586	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv527464	chr1:246698653-246742157	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv873420	chr1:246706139-246755124	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv1013264	chr1:246723012-246807400	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv535415	chr1:246723012-246807400	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246727600-246731400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:246727800-246731000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:246727800-246731200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:246727800-246731200	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:246727800-246731200	Active TSS	Osteobl	bone
6	chr1:246727800-246731400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:246727800-246732000	Active TSS	NHLF	lung
8	chr1:246728000-246731000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:246728000-246731000	Active TSS	A549	lung
10	chr1:246728000-246731400	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:246728000-246732600	Active TSS	K562	blood
12	chr1:246728200-246731000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:246728200-246731000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:246728200-246731000	Active TSS	Fetal Kidney	kidney
15	chr1:246728200-246731200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:246728200-246731200	Active TSS	NHDF-Ad	bronchial
17	chr1:246728200-246731400	Active TSS	Psoas Muscle	Psoas
18	chr1:246728200-246731400	Active TSS	Right Atrium	heart
19	chr1:246728400-246731000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr1:246728400-246731000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr1:246728400-246731200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr1:246728400-246731200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:246728400-246731200	Active TSS	Right Ventricle	heart
24	chr1:246728400-246731400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:246728400-246731400	Active TSS	Aorta	Aorta
26	chr1:246728600-246731000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:246728600-246731000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:246728600-246731000	Active TSS	HSMM	muscle
29	chr1:246728600-246731000	Active TSS	HSMMtube	muscle
30	chr1:246728600-246731200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:246728600-246731200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:246728600-246731200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr1:246728600-246731200	Active TSS	GM12878-XiMat	blood
34	chr1:246728600-246731400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:246728600-246731400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:246728600-246731400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:246728800-246731000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:246728800-246731000	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:246728800-246731000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:246728800-246731000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:246728800-246731000	Active TSS	Colon Smooth Muscle	Colon
42	chr1:246728800-246731200	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:246728800-246731200	Active TSS	Fetal Intestine Small	intestine
44	chr1:246728800-246732000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:246729000-246731000	Active TSS	Fetal Brain Male	brain
46	chr1:246729000-246731000	Active TSS	Fetal Muscle Leg	muscle
47	chr1:246729000-246731200	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr1:246729000-246731200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:246729000-246731200	Active TSS	Brain Angular Gyrus	brain
50	chr1:246729000-246731200	Active TSS	Thymus	Thymus

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